Varaico: Literature-Extracted Genetic Variants

NNT

190 papers

RefSeq Summary

This gene encodes an integral protein of the inner mitochondrial membrane. The enzyme couples hydride transfer between NAD(H) and NADP(+) to proton translocation across the inner mitochondrial membran...

Pfam Domains

AlaDh_PNT_Naa 2–68UCSCAlanine dehydrogenase/PNT, N-terminal domain

AlaDh_PNT_Naa 60–199UCSCAlanine dehydrogenase/PNT, N-terminal domain

AlaDh_PNT_Caa 203–437UCSCAlanine dehydrogenase/PNT, C-terminal domain

PNTB_4TMaa 501–587UCSC4TM region of pyridine nucleotide transhydrogenase, mitoch

PNTBaa 620–1079UCSCNAD(P) transhydrogenase beta subunit

Gene Aliases

HGNC Name

nicotinamide nucleotide transhydrogenase

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_182977.3

p.G200Splc

c.599+2T>C

Surrounding Variants

1 paper

NM_182977.3

p.G200D

c.599G>A

7 papers

NM_182977.3

p.G200S

c.598G>A

1 paper

NM_182977.3

p.N197S

c.590A>G

1 paper

NM_182977.3

p.A196G

c.587C>G

7 papers

NM_182977.3

p.S193N

c.578G>A

1 paper

NM_182977.3

p.Y189F

c.566A>T

1 paper

NM_182977.3

p.V183insFs

c.548_549insTT

1 paper

NM_182977.3

p.R182G

c.544A>G

4 papers

NM_182977.3

p.D178G

c.533A>G

3 papers

NM_182977.3

p.L175M

c.523C>A

1 paper

NM_182977.3

p.R170I

c.509G>T

1 paper

NM_182977.3

p.T150M

c.449C>T